A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

"NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinf...

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Detalles Bibliográficos
Autores Principales: "Ortega-Recalde, Oscar, Fonseca, Dora Janeth, Patiño, Liliana Catherine, Atuesta, Juan Jaime, Rivera-Nieto, Carolina, Restrepo, Carlos Martín, Mateus, Heidi Eliana, van der Knaap, Marjo S., Laissue, Paul"
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: 2013
Materias:
Ci
Md
Nmd
Acceso en línea:https://repository.urosario.edu.co/handle/10336/22599
https://doi.org/10.1016/j.mito.2013.03.010